Canonical Allele Identifier: CA2695197129
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674718
ClinVar RCV Id: RCV003459947

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812878_218812960del , CM000664.2:g.218812878_218812960del GRCh38
NC_000002.11:g.219677601_219677683del , CM000664.1:g.219677601_219677683del GRCh37
NC_000002.10:g.219385845_219385927del NCBI36
NG_007959.1:g.36130_36212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-46_881del
ENST00000258415.8:c.845-46_881del
ENST00000411688.1:c.563-46_599del
ENST00000445971.1:c.*306-46_*342del
ENST00000466602.1:n.921_1003del
ENST00000494263.5:n.1279-46_1315del
NM_000784.3:c.845-46_881del
XM_017003488.2:c.425-46_461del
NM_000784.4:c.845-46_881del